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developmental disabilties > syndromes of dd > Flashcards

syndromes of dd Flashcards

1
Q

Syndrome

A

“A complex of concurrent signs and symptoms that are characteristic of a particular condition or disorder”

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2
Q

De novo

A

A new genetic mutation (not inherited)

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3
Q

Dysmorphic

A

Malformed (e.g. facial features)

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4
Q

Microcephaly

A

Small head circumference

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5
Q

Stereotypic Behaviour

A

Repetitive movements or vocalizations

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6
Q

Hypotonia

A

Weak muscle tone

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7
Q

what is the cause of Angelemans?

A

Caused by an abnormality of chromosome 15

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8
Q

why is Angelman’s syndrome also called the Happy Puppet?

A

Excessive laughter

Puppet-like gait

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9
Q

what are the Physical characteristics of Angelmans?

A

Microcephaly
Dysmorphic facial features- wide mouth, pointy chin, prominent tongue, wide-spaced teeth, large jaw, deep set eyes
Half have fair coloured hair and skin, and blue eyes
May have strabismus (lazy eye)

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10
Q

what are some of the Functional and Behavioral Characteristics of Angelmans

A

Severe to profound ID
Speech impairment
Often have seizures (80%)
Jerky movements and hand flapping

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11
Q

what is the cause of Cri Du Shat?

A

De novo chromosome 5 defect (5p minus)

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12
Q

what are the physical characteristics of Cri Du Shat?

A

Early hypotonia (low muscle tone)
Prominent epicanthic fold (fold in the corner of your eyes)
Microcephaly
Low set ears

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13
Q

what are the Functional and behavioral characteristics of Cri Du Shat?

A

Functional and Behavioural Characteristics:
Named after the high-pitch, cat-like cry
Severe motor, language, and developmental delay
Stereotypic behaviours
Hyperactive, distractible, restless

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14
Q

what is the cause of Phenylketonuria (PKU)?

A

Autosomal recessive disorder
Essential amino acid phenylalanine is not properly metabolized
High levels of phenylalanine causes brain damage
High incidence in Yemenite Jews

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15
Q

what are the physical characteristics of PKU?

A

Eczema
Fair skin, hair, and blue eyes
Characteristic odor of the urine

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16
Q

what are the Functional and Behavioral characteristics of Phenylketonuria (PKU)

A

Must follow a diet of low phenylalanine foods
No symptoms if diet started within 3 weeks of age, mild symptoms if started between 3-6 weeks, and little benefit if started after 6 months

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17
Q

what happens if Phenylketonuria (PKU) is untreated?

A

Developmental delays
Behavioural difficulties (e.g. aggression, hyperactivity, impulsiveness)
Exaggerated reflexes
Seizures
Involuntary twisting of upper extremities, stereotypic behaviour

18
Q

what is the cause of Prader-Willi Syndrome?

A

Genetic imprinting disorder- loss of genes in chromosome 15

19
Q

what are the phyiscal characteristics of Prader-Willi Syndrome?

A 
Dysmorphic facial characteristics 
Fair skin and hair, blue eyes 
Hypotonia (weak muscle tone) 
Obesity 
Undescended testicles, small penis/testes, low testosterone 
Short stature, small hands and feet
20
Q

what are some of the functional and behavioral characteristics of Prader Willi Syndrome?

A

Mild to moderate ID
Compulsive eating
Challenging behaviour: aggression, irritability, stubbornness, anxiety, self-injurious behaviour

21
Q

what is the cause of Williams Syndrome ?

A

De novo microdeletions on chromosome 7

22
Q

what are some of the physical symptoms of Williams Syndrome?

A

Elfin-like facial features
Low birth weight and growth delay
Renal and cardiovascular irregularities
Congenital heart defects including hypertension
Difficulties with feeding, digestion, constipation, and urination

23
Q

what are some of the Functional and Behavioral Characteristics of Williams syndrome?

A 
Developmental delays 
Auditory sensitivity 
Higher language abilities 
Very friendly 
Exceptional musical abilities 
Emotional and behavioural difficulties such as anxiety, ADHD, lack of social
24
Q

what are some of the Genetic, X-Linked Disorders ?

A

Cornelia de Lange Syndrome
Hunter Syndrome
Klinefelter Syndrome
Lesch-Nyhan Syndrome

25
Q

what are some of the Neuronal Migration Disorders?

A

Rett Syndrome
Turner Syndrome
Fragile X Syndrome

26
Q

what is the cause of Klinefelter Syndrome?

A

De novo mutation resulting in an extra sex chromosome (XXY)

27
Q

what are the Physical Characteristics of Klinefelter Syndrome ?

A 
Abnormal male sexual development (small testes/penis, infertility, low testosterone, swelling of breast tissue) 
Sparse facial and body hair 
Woman-like storage of fat on body 
Long legs 
Hypotonia, motor skill difficulties
28
Q

what are some of the Functional and Behavioral Characteristics of Klinefelter Syndrome?

A

Most (80%) have average intelligence
Problems with expressive language, social skills, anxiety, and self-esteem
Comorbid medical conditions such as hypothyroidism, breast cancer, osteoperosis, diabetes

29
Q

what is the cause of Turner’s syndrome?

A

AKA Chromosome XO syndrome
Missing or abnormal X chromosome
Only affects females

30
Q

what are the functional and behavioral characteristics of Turner’s Syndrome?

A

Intelligence typically in the normal to low range

Comorbid disabilities: ADHD, learning disability, medical conditions

31
Q

what are the Physical Characteristics of Turner’s Syndrome

A 
Low birth weight 
Edema- fluid retention on hands and feet 
Short stature 
Webbed neck 
Small jaw 
Prominent ears 
Broad chest and wide spaced nipples 
Elbows that are turned in 
Sexual immaturity/infertility 
Hearing loss
32
Q

Rett Syndrome cause

A

Do novo mutation on the x chromosome

Primarily affects girls (males do not survive)

33
Q

what are the physical characteristics of Rhett Syndrome?

A

Hypotonia
Microcephaly
Excessive saliva and drooling
Shaky, unsteady, or stiff gait; scoliosis

34
Q

what are the functional characteristics of Rhett Syndrome?

A 
Typical development for first 6-18 months, then regression in language and head growth 
Autistic behaviours 
Apraxia- impairment in motor planning 
Seizures 
Gastrointestinal complaints
35
Q

what is the cause Fragile X Syndrome?

A

Inherited mutation in the FMR1 gene located on the X chromosome

36
Q

what are the physical characteristics of Fragile X Syndrome?

A 
Long face with prominent jaw and ears 
High arched palate 
Single crease on palm 
Flat feet and loose joints 
Hypotonia 
Seizures
37
Q

what are the functional and behavioral characteristics of Fragile X syndrome?

A

Males more severely impacted than females
Cognitive impairments- mild in girls
Behavioural problems such as aggression, hyperactivity, sensitivity to touch and sound
Autistic traits such as repetitive behaviour, poor eye contact
Social anxiety and shyness

38
Q

what is the cause of Tourette Syndrome ?

A

Combination of genetic and environmental factors

Probably related to nerves connecting the basal ganglia and frontal cortex

39
Q

what are the tics associated with Tourette Syndrome?

A 
nvoluntary movements  
Involuntary vocalizations 
Echolalia- repeating words or sentences  
Coprolalia- saying vulgar words 
Sounds such as throat clearing
40
Q

what are some of the challenging behavior issues associated with Tourette’s Syndrome?

A

hyperactivity, OCD symptoms, self-injury, inappropriate sexual behaviour

41
Q

what is a common treatment for Tourettes Syndrome?

A

Often treated with medication- not always effective

developmental disabilties (14 decks)

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